Canonical Allele Identifier: CA2739561913

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524531G>T , CM000679.2:g.75524531G>T	GRCh38
NC_000017.10:g.73520612G>T , CM000679.1:g.73520612G>T	GRCh37
NC_000017.9:g.71032207G>T	NCBI36
NG_013041.1:g.13004G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*119G>T MANE Select	ENSP00000327487.6:n.*119G>T
ENST00000434205.8:c.*119G>T	ENSP00000406559.4:n.*119G>T
ENST00000545228.3:c.*199G>T	ENSP00000438169.3:n.*199G>T
ENST00000577197.2:n.898G>T
ENST00000579449.2:n.2440G>T
ENST00000580013.6:n.2844G>T
ENST00000679370.1:n.3222G>T
ENST00000679429.1:c.*1158G>T	ENSP00000505403.1:n.*1158G>T
ENST00000679443.1:n.1769G>T
ENST00000679782.1:c.*399G>T	ENSP00000505995.1:n.*399G>T
ENST00000679919.1:n.1971G>T
ENST00000679928.1:c.*2252G>T	ENSP00000506071.1:n.*2252G>T
ENST00000680999.1:c.*119G>T	ENSP00000504984.1:n.*119G>T
ENST00000681282.1:c.*1887G>T	ENSP00000506339.1:n.*1887G>T
ENST00000333213.10:c.*119G>T	ENSP00000327487.6:n.*119G>T
ENST00000545228.2:c.977G>T
ENST00000577197.1:n.448G>T
NM_207346.2:c.*119G>T	NP_997229.2:n.*119G>T
XM_005257229.2:c.*199G>T	XP_005257286.1:n.*199G>T
XM_006721821.2:c.*199G>T	XP_006721884.1:n.*199G>T
XM_011524616.1:c.*199G>T	XP_011522918.1:n.*199G>T
XM_011524618.1:c.*119G>T	XP_011522920.1:n.*119G>T
XR_243646.2:n.1932G>T
XM_005257229.4:c.*199G>T	XP_005257286.1:n.*199G>T
XR_243646.4:n.1938G>T
NM_207346.3:c.*119G>T MANE Select	NP_997229.2:n.*119G>T